L13Q (p.Leu13Gln) variant of PINK1 (Q9BXM7)
L13Q (p.Leu13Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 1-20633586-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- CADD 25.50
- PolyPhen-2 0.88
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available